title: Polymorphisms of the TIM-1 and TIM-3 genes are not associated with systemic lupus erythematosus in a Chinese population.
abstract: Systemic lupus erythematosus (SLE) is a prototypic systemic autoimmune diseases, which affects multiple organ systems such as kidney. The imbalance of T-helper 1 (Th1)/Th2 cells is critical in the pathogenesis of SLE. The T-cell immunoglobulin mucin (TIM) proteins comprise a family of cell surface molecules expressed on T cells that regulate Th1- and Th2-cell-mediated immunity. Recent work has found increased expression of TIM-1 and TIM-3 ligand (galactin-9) mRNA in SLE patients and implied that TIM proteins might be involved in the pathogenesis of SLE. In this study, genotyping of single-nucleotide polymorphisms (SNPs) was performed for TIM-1 (rs1501909 and rs12522248) and TIM-3 (rs9313439 and rs10515746) in 202 SLE patients and 217 healthy individuals in a Chinese population. Results showed no significant differences existed between the patients with SLE and the controls as well as SLE patients with nephritis and those without nephritis, in all four SNPs. The findings suggest that the polymorphisms of TIM gene family might not contribute to SLE susceptibility in the Chinese population. However, it should be noted that the statistical power of our study is relatively low, which likely did not have adequate power to detect the actual correlation between the selected SNPs and SLE susceptibility; moreover, we cannot discard a possible association of other variants within the region covering TIM with SLE as a genetic risk factor, with larger samples in different populations.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, People's Republic of China.
authors.forename: Wen-Xian
authors.initials: WX
authors.lastname: Li
authors.forename: Gui-Mei
authors.initials: GM
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Yuan
authors.forename: Ying-Shui
authors.initials: YS
authors.lastname: Yao
authors.forename: Ruo-Jie
authors.initials: RJ
authors.lastname: Li
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
authors.forename: Xiang-Pei
authors.initials: XP
authors.lastname: Li
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Xu
authors.forename: Jin-Hui
authors.initials: JH
authors.lastname: Tao
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D000072596:Hepatitis A Virus Cellular Receptor 1; D000072597:Hepatitis A Virus Cellular Receptor 2; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011991:Receptors, Virus / Q000235:genetics*
chemical_list: C491143:HAVCR1 protein, human; C448908:HAVCR2 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D000072597:Hepatitis A Virus Cellular Receptor 2; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011991:Receptors, Virus